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Charles University: Prague, CZ

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Source: Self-asserted source
Pavlína Skalická

Works (40)

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

PLoS genetics
2024-05-07 | Journal article
DOI: 10.1371/journal.pgen.1011230
PMID: 38713708
PMC: PMC11101122
Contributors: Nihar Bhattacharyya; Niuzheng Chai; Hafford-Tear NJ; Sadan AN; Szabo A; Christina Zarouchlioti; Jedličková, Moravíková; Leung SK; Liao T; Lubica Dudakova et al.
Source: Self-asserted source
Pavlína Skalická

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Human Mutation
2024-01-04 | Journal article
DOI: 10.1155/2024/4450082
Contributors: Lubica Dudakova; Lenka Noskova; Stanislav Kmoch; Martin Filipec; Ales Filous; Alice E. Davidson; Vasileios Toulis; Jana Jedlickova; Pavlina Skalicka; Hana Hartmannova et al.
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Crossref

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

American journal of ophthalmology
2023-11-14 | Journal article
DOI: 10.1016/j.ajo.2023.10.011
PMID: 37972748
Contributors: Karynne Patterson; Jessica X Chong; Doug Chung; Lisch W; Karp CL; Dreisler E; David Lockington; Rohrbach JM; Garczarczyk-Asim D; Thomas Müller et al.
Source: Self-asserted source
Pavlína Skalická

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.

Acta ophthalmologica
2023-03-07 | Journal article
DOI: 10.1111/aos.15654
PMID: 36883248
Contributors: Siyin Liu; Sadan AN; Muthusamy K; Zarouchlioti C; Jedličková, Moravíková; Pontikos N; Thaung C; Hardcastle AJ; Magdalena Netukova; Skalicka P et al.
Source: Self-asserted source
Pavlína Skalická

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel <i>FOXC1</i> Variant.

Journal of clinical medicine
2022-08-31 | Journal article
DOI: 10.3390/jcm11175166
PMID: 36079096
PMC: PMC9457150
Contributors: Skalicka P; Jedličková, Moravíková; Horinek A; Trkova M; Alice Davidson; Tuft SJ; Lubica Dudakova; Petra Liskova
Source: Self-asserted source
Pavlína Skalická

Novel disease‐causing variants and phenotypic features of X‐linked megalocornea

Acta Ophthalmologica
2022-06 | Journal article
DOI: 10.1111/aos.15022
Contributors: Lubica Dudakova; Stephen Tuft; Sek‐Shir Cheong; Pavlina Skalicka; Jana Jedlickova; Marek Fichtl; Martin Hlozanek; Ales Filous; Manuela Vaneckova; Andrea L. Vincent et al.
Source: check_circle
Crossref

Presence of Protease Inhibitor 9 and Granzyme B in Healthy and Pathological Human Corneas.

Biology
2022-05-23 | Journal article
DOI: 10.3390/biology11050793
PMID: 35625521
PMC: PMC9138262
Source: Self-asserted source
Pavlína Skalická

Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.

Acta ophthalmologica
2022-02-17 | Journal article
DOI: 10.1111/aos.15114
PMID: 35174971
Source: Self-asserted source
Pavlína Skalická

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Genes
2021-11-29 | Journal article
DOI: 10.3390/genes12121918
PMID: 34946867
PMC: PMC8702069
Source: Self-asserted source
Pavlína Skalická

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Human molecular genetics
2021-08-01 | Journal article
DOI: 10.1093/hmg/ddab142
PMID: 34046667
PMC: PMC8369840
Source: Self-asserted source
Pavlína Skalická

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

Genes
2021-04-30 | Journal article
DOI: 10.3390/genes12050677
PMID: 33946386
PMC: PMC8146820
Source: Self-asserted source
Pavlína Skalická

The micronucleus cytome assay - A fast tool for DNA damage screening in human conjunctival epithelial cells.

The ocular surface
2021-03-04 | Journal article
DOI: 10.1016/j.jtos.2021.02.011
PMID: 33677062
Source: Self-asserted source
Pavlína Skalická

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Communications biology
2021-03-01 | Journal article
DOI: 10.1038/s42003-021-01784-0
PMID: 33649486
PMC: PMC7921564
Source: Self-asserted source
Pavlína Skalická

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel <i>PRSS56</i> Variant.

Journal of ophthalmology
2020-05-10 | Journal article
DOI: 10.1155/2020/6807809
PMID: 32454992
PMC: PMC7212339
Source: Self-asserted source
Pavlína Skalická

Dupilumab therapy in a patient with atopic dermatitis and severe atopic keratoconjunctivitis.

Journal of the European Academy of Dermatology and Venereology : JEADV
2020-03-06 | Journal article
DOI: 10.1111/jdv.16278
PMID: 32031716
Source: Self-asserted source
Pavlína Skalická

Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.

Folia biologica
2020-01-01 | Journal article
PMID: 33745259
Source: Self-asserted source
Pavlína Skalická

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.

Investigative ophthalmology & visual science
2019-07-01 | Journal article
DOI: 10.1167/iovs.19-26930
PMID: 31323090
PMC: PMC6645617
Source: Self-asserted source
Pavlína Skalická

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3.

Cornea
2019-06-01 | Journal article
DOI: 10.1097/ico.0000000000001930
PMID: 30950897
Source: Self-asserted source
Pavlína Skalická

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty.

Acta ophthalmologica
2019-05-02 | Journal article
DOI: 10.1111/aos.14123
PMID: 31044553
Source: Self-asserted source
Pavlína Skalická

Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
2019-04-17 | Journal article
DOI: 10.5507/bp.2019.017
PMID: 31025659
Source: Self-asserted source
Pavlína Skalická

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.

Experimental eye research
2019-03-07 | Journal article
DOI: 10.1016/j.exer.2019.03.002
PMID: 30851240
Source: Self-asserted source
Pavlína Skalická

Interleukin-13 maintains the stemness of conjunctival epithelial cell cultures prepared from human limbal explants.

PloS one
2019-02-11 | Journal article
DOI: 10.1371/journal.pone.0211861
PMID: 30742646
PMC: PMC6370187
Source: Self-asserted source
Pavlína Skalická

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.

BMC ophthalmology
2018-09-17 | Journal article
DOI: 10.1186/s12886-018-0918-8
PMID: 30223810
PMC: PMC6142341
Source: Self-asserted source
Pavlína Skalická

Characterization and comparison of human limbal explant cultures grown under defined and xeno-free conditions.

Experimental eye research
2018-06-19 | Journal article
DOI: 10.1016/j.exer.2018.06.019
PMID: 29928900
Source: Self-asserted source
Pavlína Skalická

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

American journal of human genetics
2018-03 | Journal article
DOI: 10.1016/j.ajhg.2018.02.010
PMID: 29526280
PMC: PMC5985359
Contributors: Zarouchlioti C; Sanchez-Pintado B; Hafford Tear NJ; Klein P; Liskova P; Dulla K; Semo M; Vugler AA; Muthusamy K; Dudakova L et al.
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

American journal of human genetics
2018-03 | Journal article
DOI: 10.1016/j.ajhg.2018.02.002
PMID: 29499165
PMC: PMC5985340
Contributors: Liskova P; Dudakova L; Evans CJ; Rojas Lopez KE; Pontikos N; Athanasiou D; Jama H; Sach J; Skalicka P; Stranecky V et al.
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

Stem cell reviews
2018-02 | Journal article
DOI: 10.1007/s12015-017-9780-y
PMID: 29134474
Contributors: Dudakova L; Cheong SS; Merjava SR; Skalicka P; Michalickova M; Palos M; Mahelkova G; Krizova D; Hlozanek M; Trkova M et al.
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Acta ophthalmologica
2017-07 | Journal article
DOI: 10.1111/aos.13484
PMID: 28677912
Contributors: Dudakova L; Vercruyssen JHJ; Balikova I; Postolache L; Leroy BP; Skalicka P; Liskova P
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.

PloS one
2017-04 | Journal article
DOI: 10.1371/journal.pone.0175509
PMID: 28414732
PMC: PMC5393593
Contributors: Stadnikova A; Dudakova L; Skalicka P; Valenta Z; Filipec M; Jirsova K
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

Ophthalmic genetics
2016-03 | Journal article
DOI: 10.3109/13816810.2015.1126615
PMID: 27028151
Contributors: Dudakova L; Palos M; Jirsova K; Skalicka P; Dundr P; Liskova P
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

[Ocular Cicatricial Pemphigoid - a Retrospective Study].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2016-02 | Journal article
PMID: 27041284
Contributors: Szabó E; Palos M; Skalická P
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

Apoptosis of conjunctival epithelial cells before and after the application of autologous serum eye drops in severe dry eye disease.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
2016-02 | Journal article
DOI: 10.5507/bp.2016.001
PMID: 26927466
Contributors: Rybickova I; Vesela V; Fales I; Skalicka P; Jirsova K
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

[Preimplantation genetic diagnosis and monogenic inherited eye diseases].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2016-01 | Journal article
PMID: 28224801
Contributors: Hlavatá L; Ďuďáková Ľ; Trková M; Soldátová I; Skalická P; Kousal B; Lišková P
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

[Tear Osmolarity in Patients with Severe Dry Eye Syndrome Before and After Autologous Serum Treatment: a Comparison with Tear Osmolarity in Healthy Volunteers].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2015-08 | Journal article
PMID: 26395851
Contributors: Mahelková G; Veselá V; Seidler Štangová P; Židlická A; Dotřelová D; Fales I; Skalická P; Jirsová K
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.

Molecular vision
2014-09 | Journal article
PMID: 25352739
PMC: PMC4169777
Contributors: Kousal B; Skalicka P; Valesova L; Fletcher T; Hart-Holden N; O'Grady A; Chakarova CF; Michaelides M; Hardcastle AJ; Liskova P
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

[Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2013-03 | Journal article
PMID: 23822596
Contributors: Kousal B; Skalická P; Diblík P; Kuthan P; Langrová H; Lišková P
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

[Problematic issues related to screening for diabetic retinopathy].

Vnitrni lekarstvi
2013-03 | Journal article
PMID: 23713192
Contributors: Skalická P; Kalvodová B
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.

Acta ophthalmologica
2011-03 | Journal article
DOI: 10.1111/j.1755-3768.2009.01802.x
PMID: 20064120
Contributors: Liskova P; Colclough T; Hart-Holden N; Chakarova CF; O'Grady A; Kondrova L; Skalicka P; Diblik P; Hardcastle AJ
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

[Importance of pars plana vitrectomy in the diagnosis of ocular toxocariasis]

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2003-09 | Journal article
PMID: 14518357
Contributors: Sisková A; Ríhová E; Skalická P; Jandusová J; Dotrelová D
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central

[Multiple extrarenal complications in Wegener granulomatosis]

Casopis lekaru ceskych
2001-08 | Journal article
PMID: 11678030
Contributors: Ríhová Z; Merta M; Rysavá R; Bezdícek P; Danzig V; Gorican K; Lukás J; Skalická P; Vernerová Z; Tesar V
Source: Self-asserted source
Pavlína Skalická via Europe PubMed Central
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